Canonical Allele Identifier: CA173143532

Gene: ASAH1

Linked Data

• dbSNP Id: rs1041592451
• gnomAD v2: 8-17922029-A-C
• gnomAD v3: 8-18064520-A-C
• gnomAD v4: 8-18064520-A-C
• COSMIC: COSM3663684 ; COSM3663685 ; COSM3663686
• MyVariant Identifiers: chr8:g.17922029A>C (hg19) ; chr8:g.18064520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064520A>C , CM000670.2:g.18064520A>C	GRCh38
NC_000008.10:g.17922029A>C , CM000670.1:g.17922029A>C	GRCh37
NC_000008.9:g.17966309A>C	NCBI36
NG_008985.1:g.25479T>G
NG_008985.2:g.25479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.442T>G	ENSP00000371152.4:p.Ser148Ala
ENST00000519545.6:n.411T>G
ENST00000520781.6:c.383-1290T>G	ENSP00000427751.1:n.383-1290T>G
ENST00000523593.6:c.*237T>G	ENSP00000490700.1:n.*237T>G
ENST00000523744.2:n.4152T>G
ENST00000635769.1:c.415T>G	ENSP00000490485.1:p.Ser139Ala
ENST00000635944.1:c.*230T>G	ENSP00000490195.1:n.*230T>G
ENST00000635998.1:c.394T>G	ENSP00000490506.1:p.Ser132Ala
ENST00000636009.1:c.315-1290T>G	ENSP00000489988.1:n.315-1290T>G
ENST00000636033.1:c.*230T>G	ENSP00000489617.1:n.*230T>G
ENST00000636050.1:c.*237T>G	ENSP00000490562.1:n.*237T>G
ENST00000636128.1:c.382+2700T>G	ENSP00000489789.1:n.382+2700T>G
ENST00000636160.1:c.*286T>G	ENSP00000489651.1:n.*286T>G
ENST00000636171.1:c.383-46T>G	ENSP00000489761.1:n.383-46T>G
ENST00000636299.1:c.*165T>G	ENSP00000490202.1:n.*165T>G
ENST00000636435.1:n.3166T>G
ENST00000636455.1:c.442T>G	ENSP00000490502.1:p.Ser148Ala
ENST00000636494.1:c.*174T>G	ENSP00000490388.1:n.*174T>G
ENST00000636563.1:n.56T>G
ENST00000636577.1:c.383-49T>G	ENSP00000490027.1:n.383-49T>G
ENST00000636691.1:c.199T>G	ENSP00000490725.1:p.Ser67Ala
ENST00000636701.1:c.*45T>G	ENSP00000489800.1:n.*45T>G
ENST00000636815.1:c.311T>G
ENST00000636823.1:c.199T>G	ENSP00000490798.1:p.Ser67Ala
ENST00000636828.1:n.3258T>G
ENST00000636920.1:c.*230T>G	ENSP00000490437.1:n.*230T>G
ENST00000636997.1:c.307T>G	ENSP00000490093.1:p.Ser103Ala
ENST00000637013.1:c.*606T>G	ENSP00000490596.1:n.*606T>G
ENST00000637095.1:c.*174T>G	ENSP00000490415.1:n.*174T>G
ENST00000637244.1:c.*912T>G	ENSP00000490188.1:n.*912T>G
ENST00000637343.1:n.605T>G
ENST00000637429.1:c.*606T>G	ENSP00000490522.1:n.*606T>G
ENST00000637484.1:c.*420-1290T>G	ENSP00000490837.1:n.*420-1290T>G
ENST00000637528.1:c.383-52T>G	ENSP00000490801.1:n.383-52T>G
ENST00000637603.1:c.364T>G	ENSP00000489979.1:p.Ser122Ala
ENST00000637609.1:n.3115T>G
ENST00000637636.1:c.388T>G	ENSP00000490112.1:p.Ser130Ala
ENST00000637638.1:c.394T>G	ENSP00000490774.1:p.Ser132Ala
ENST00000637718.1:c.199T>G	ENSP00000490133.1:p.Ser67Ala
ENST00000637790.2:c.394T>G MANE Select	ENSP00000490272.1:p.Ser132Ala
ENST00000637857.1:n.105-2097T>G
ENST00000637922.1:c.199T>G	ENSP00000490071.1:p.Ser67Ala
ENST00000637991.1:c.431-1290T>G	ENSP00000489901.1:n.431-1290T>G
ENST00000638069.1:n.450T>G
ENST00000262097.10:c.394T>G	ENSP00000262097.6:p.Ser132Ala
ENST00000314146.10:c.376T>G	ENSP00000326970.10:p.Ser126Ala
ENST00000381733.8:c.442T>G	ENSP00000371152.4:p.Ser148Ala
ENST00000519468.5:n.389-2153T>G
ENST00000519545.5:n.408T>G
ENST00000520781.5:c.383-1290T>G	ENSP00000427751.1:n.383-1290T>G
ENST00000523593.5:n.247T>G
ENST00000523744.1:n.397T>G
NM_001127505.1:c.376T>G	NP_001120977.1:p.Ser126Ala
NM_001127505.2:c.376T>G	NP_001120977.1:p.Ser126Ala
NM_004315.4:c.442T>G	NP_004306.3:p.Ser148Ala
NM_004315.5:c.442T>G	NP_004306.3:p.Ser148Ala
NM_177924.3:c.394T>G	NP_808592.2:p.Ser132Ala
NM_177924.4:c.394T>G	NP_808592.2:p.Ser132Ala
XM_005273504.2:c.328T>G	XP_005273561.1:p.Ser110Ala
NM_001363743.1:c.199T>G	NP_001350672.1:p.Ser67Ala
XM_005273504.3:c.328T>G	XP_005273561.1:p.Ser110Ala
NM_177924.5:c.394T>G MANE Select	NP_808592.2:p.Ser132Ala
NM_001127505.3:c.376T>G	NP_001120977.1:p.Ser126Ala
NM_001363743.2:c.199T>G	NP_001350672.1:p.Ser67Ala
NM_004315.6:c.442T>G	NP_004306.3:p.Ser148Ala